Variant report

Variant	rs4571397
Chromosome Location	chr4:55887962-55887963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10018070	0.94[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13101523	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs13111963	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13112551	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13142103	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13144674	0.82[ASN][1000 genomes]
rs13144875	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28744674	0.91[ASN][1000 genomes]
rs34227858	0.82[ASN][1000 genomes]
rs4259119	0.95[ASN][1000 genomes]
rs4333248	0.90[CHB][hapmap];0.94[CHD][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4457012	0.90[ASN][1000 genomes]
rs4495109	0.81[GIH][hapmap]
rs4566712	0.83[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4577640	0.82[ASN][1000 genomes]
rs4582210	0.95[ASN][1000 genomes]
rs4596303	0.90[CHB][hapmap];0.81[YRI][hapmap]
rs4864529	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4864530	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4864949	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs5018667	0.86[ASN][1000 genomes]
rs57528857	0.88[ASN][1000 genomes]
rs6554225	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6554226	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554228	0.91[ASN][1000 genomes]
rs6554229	0.91[ASN][1000 genomes]
rs66459610	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs66506770	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6816847	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820336	0.90[ASN][1000 genomes]
rs6820371	0.90[ASN][1000 genomes]
rs6844468	0.98[ASN][1000 genomes]
rs6845385	0.90[ASN][1000 genomes]
rs7658751	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7661259	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7677709	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7679094	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4571397	AASDH	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55884000-55891200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:55884200-55891000	Weak transcription	HMEC	breast
3	chr4:55885600-55890600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:55885600-55891200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:55886400-55893800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:55887800-55888000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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